Canonical Allele Identifier: CA550665277
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1560190011
gnomAD v2: 4-24801441-G-GA
gnomAD v4: 4-24799819-G-GA
MyVariant Identifiers: chr4:g.24801441_24801442insA (hg19) chr4:g.24799819_24799820insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799820dup , CM000666.2:g.24799820dup GRCh38
NC_000004.11:g.24801442dup , CM000666.1:g.24801442dup GRCh37
NC_000004.10:g.24410540dup NCBI36
NG_012213.1:g.9358dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.299dup MANE Select ENSP00000371554.3:p.Phe102LeufsTer?
ENST00000382120.3:c.299dup ENSP00000371554.3:p.Phe102LeufsTer?
NM_003102.2:c.299dup NP_003093.2:p.Phe102LeufsTer?
XR_427488.1:n.489dup
NM_003102.3:c.299dup NP_003093.2:p.Phe102LeufsTer?
NM_003102.4:c.299dup MANE Select NP_003093.2:p.Phe102LeufsTer?
Search 100 bp 5'
Search 100 bp 3'